Variant report

Variant	rs11227723
Chromosome Location	chr11:66936161-66936162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66817327..66819463-chr11:66933509..66936497,2	MCF-7	breast:
2	chr11:66934886..66936403-chr11:67006435..67008151,2	MCF-7	breast:
3	chr11:66849074..66849841-chr11:66935691..66936343,3	MCF-7	breast:
4	chr11:66821032..66821543-chr11:66935439..66936310,2	MCF-7	breast:
5	chr11:66926847..66929328-chr11:66934758..66937261,2	K562	blood:
6	chr11:66929013..66930830-chr11:66934659..66937303,2	MCF-7	breast:
7	chr11:66849056..66850044-chr11:66935045..66936369,5	MCF-7	breast:
8	chr11:66921484..66924337-chr11:66934219..66936305,2	K562	blood:
9	chr11:66933281..66937072-chr11:67006310..67009809,4	K562	blood:
10	chr11:66930023..66932870-chr11:66933678..66937134,5	MCF-7	breast:
11	chr11:66935315..66937886-chr11:66960341..66962515,2	K562	blood:
12	chr11:66862144..66862980-chr11:66935669..66936419,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173120	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10791900	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896161	0.83[ASN][1000 genomes]
rs11227687	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11227689	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11227690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11227695	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11227696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11227697	0.86[ASN][1000 genomes]
rs11227701	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227713	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227718	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11227720	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227722	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227732	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11227740	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs11227742	0.82[AFR][1000 genomes]
rs11227745	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap]
rs11227750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11227751	1.00[AMR][1000 genomes]
rs11227752	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs11227761	0.87[AMR][1000 genomes]
rs11227765	0.87[AMR][1000 genomes]
rs11227770	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs12223898	0.87[AMR][1000 genomes]
rs12271777	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12273711	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12274774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs12282264	0.94[ASN][1000 genomes]
rs12293866	0.81[ASN][1000 genomes]
rs17145414	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28604372	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3730145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs3892143	0.87[AMR][1000 genomes]
rs55936319	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56132056	0.87[AMR][1000 genomes]
rs61395951	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61758503	0.87[AMR][1000 genomes]
rs61891311	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61891316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61891317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61891340	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891343	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61891344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891346	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6591234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6591235	0.94[ASN][1000 genomes]
rs7111473	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7127431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes]
rs72926981	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7927142	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7946985	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7947663	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9630209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11227723	RPS6KB2	cis	lymphoblastoid	seeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66905600-66950400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:66907800-66953000	Weak transcription	Aorta	Aorta
3	chr11:66907800-66975000	Weak transcription	Pancreas	Pancrea
4	chr11:66918600-66947200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:66918800-66947400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:66918800-66968000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:66919400-66947200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:66919600-66950400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:66919800-66947200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:66919800-66947400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:66919800-66947400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:66919800-66949600	Weak transcription	Lung	lung
13	chr11:66920000-66947600	Weak transcription	Right Ventricle	heart
14	chr11:66920400-66947200	Weak transcription	Placenta	Placenta
15	chr11:66920400-66947400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:66920800-66941200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:66920800-66949200	Weak transcription	Fetal Kidney	kidney
18	chr11:66921200-66945200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:66921200-66946800	Weak transcription	Ovary	ovary
20	chr11:66922000-66938000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:66922600-66947200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:66923000-66940800	Weak transcription	Fetal Stomach	stomach
23	chr11:66923000-66947400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:66923200-66947400	Weak transcription	Thymus	Thymus
25	chr11:66925800-66945200	Weak transcription	Fetal Lung	lung
26	chr11:66926000-66950400	Weak transcription	Brain Germinal Matrix	brain
27	chr11:66926000-66966800	Weak transcription	Brain Angular Gyrus	brain
28	chr11:66926200-66948400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:66926200-66963800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:66927600-66942000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:66927800-66942200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:66928000-66938600	Weak transcription	Primary B cells from cord blood	blood
33	chr11:66928600-66945000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:66929000-66942400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr11:66929000-66947600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:66929200-66938200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:66929400-66942000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:66929600-66941800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:66929600-66947200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:66929800-66942200	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:66930600-66947400	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:66930800-66939000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr11:66930800-66985600	Weak transcription	Small Intestine	intestine
44	chr11:66931000-66938200	Weak transcription	Primary T cells from cord blood	blood
45	chr11:66932200-66938400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:66932400-66936800	Enhancers	Hela-S3	cervix
47	chr11:66932400-66938200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:66932400-66945200	Weak transcription	Fetal Intestine Large	intestine
49	chr11:66932400-66947200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:66932600-66938200	Weak transcription	Fetal Muscle Trunk	muscle

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